Boseley, health editor – September 14, 2007 – The Guardian

Children as young as 15 months should be screened for high cholesterol in an attempt to cut the number of Britons suffering from heart disease, doctors say today.

A national screening programme, which would involve a blood test for babies, possibly at the same time as routine vaccinations such as MMR, could help to slash the number of people in the UK with heart disease caused by hereditary high cholesterol, according to the doctors, who publish their work online in the British Medical Journal.

About two in every 1,000 people are affected by familial hypercholesterolaemia, which carries a high risk of a build-up of cholesterol in the blood and premature death from heart disease. But it is difficult to ascertain who in the population has the genetic disorder.

David Wald, a consultant cardiologist and senior lecturer at the Wolfson institute of preventive medicine at the University of London, and colleagues carried out a study to find out the best way to screen for the disorder. They reviewed 13 studies involving a total of 1,907 people with hereditary high cholesterol and 16,221 without.

They found that screening was most effective in children aged between one and nine. It identified 88% of those with the genetic defect in that age group, but was much less successful in newborns and in young adults.

Their idea is not to treat the child, but to identify the parent with a problem and put them on cholesterol-lowering drugs. “The identification of affected children aged one to nine provides an opportunity to identify affected parents,” they write. “Screening children in this way therefore accomplishes two aims simultaneously: screening children and screening their parents. Treatment to lower cholesterol could be initiated immediately in the parent and delayed in the child until adulthood.”

In most families, only one of the parents would be affected by the disorder. To establish which one, doctors would test the cholesterol levels of both. The one with higher cholesterol would most probably be the carrier and would be treated.

It would be possible to carry out DNA tests to establish with greater certainty who is affected, but these are more complicated and expensive and would miss 20% of affected parents who have a chromosomal mutation that cannot yet be picked up. “Screening without DNA diagnosis has the advantage of being simpler and less expensive,” they write.

One of the advantages of their screening programme in small children is that it would not have to continue indefinitely, they say. “If, after a few decades, the uptake of screening were high enough, the need to test children at 15 months of age would disappear because all or nearly all affected individuals would be known and it would be necessary to test only the children of families known to have the disorder. The strategy has the potential to prevent a major cause of coronary heart disease in young adults.”